Publikationen von Vera M. Kalscheuer
Alle Typen
Zeitschriftenartikel (179)
1.
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614, S. 564 - 571 (2023)
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 2.
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28, S. 668 - 697 (2023)
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 3.
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10 (12), 3148 (2022)
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 4.
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13 (1), 6570 (2022)
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 5.
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13, 6470 (2022)
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 6.
Zeitschriftenartikel
98 (5), S. 507 - 514 (2020)
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 7.
Zeitschriftenartikel
48 (17), S. 9804 - 9821 (2020)
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 8.
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2020, S. 1 - 6 (2020)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 9.
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8 (10), e1418 (2020)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 10.
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106 (6), S. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 11.
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24 (11), S. 1748 - 1768 (2019)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 12.
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40 (8), S. 1057 - 1062 (2019)
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation 13.
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9, 10730 (2019)
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 14.
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24 (7), S. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 15.
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2019, S. 1 - 16 (2019)
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 16.
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12, 12:60 (2019)
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 17.
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28 (4), S. 598 - 614 (2019)
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 18.
Zeitschriftenartikel
179 (1), S. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 19.
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95 (1), S. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 20.
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50 (10), S. 1442 - 1451 (2018)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics